198th ENMC international workshop on myotubular/centronuclear myopathies (MTM/CNM)

This article about the 198th ENMC international workshop on myotubular/centronuclear myopathies first appeared in the Information Point newsletter Our World in 2013.

198th ENMC workshop

At the beginning of June 2013, the European Neuromuscular Centre (ENMC) (an international organisation facilitating communication amongst scientists and clinicians working in the area of neuromuscular disease) sponsored a conference on myotubular and centronuclear myopathy, the first for our condition since 2009. Leading researchers from all over Europe and the US presented and and we were really delighted to be there to see the collaboration and the sharing of ideas and information between them all.

It was incredibly reassuring to see how closely they are all trying to work together. None of us can be unmoved by the following line from the conference lay summary: “Since the most recent ENMC workshop on MTM/CNM in 2009, the field has seen an exponential increase in knowledge concerning these conditions, with therapy development becoming an increasingly realistic prospect”.

Sessions included a workshop focused on already known forms of MTM/CNM, in particular those due to mutations in the MTM1, DNM2, BIN1 and RYR1 genes and more recently recognised disorders identified through systematic application of powerful novel genetic techniques.

Further sessions concentrated on the current understanding of disease mechanisms, as studied in cells and animal models including zebrafish, mouse and dog, which have been shown to faithfully replicate many aspects of MTM/CNM in humans. The results of experimental therapeutic approaches in animal models of MTM/CNM were presented, with a particular view to their potential applicability in humans affected by these disorders and the final session summarised the current state of the tools needed, including patient registries and studies of the natural history of the disorders, to translate recent insights derived from animal studies into therapy development of direct benefit for patients.

Lastly, the importance of joint international efforts for the study of rare conditions such as MTM/CNM was emphasized, and plans for further collaborations and meetings were drafted.

 

ENMC workshops

The Information Point newsletter Our World has written about ENMC workshops on several occasions. You can read the reports below and view the full reports on the ENMC website.

 

 

 

 

 

How I Met Your Father

This article first appeared in The Information Point newsletter Our World in 2016 when Aminah Hart told us about her book How I Met Your Father. Aminah, the mother of three children, sons Marlon and Louis who had myotubular myopathy and daughter Leila, then three years old, born after Aminah underwent IVF using anonymous donor sperm. Aminah told the Information Point about her life, her boys and the unconventional way she came to have her daughter and fall in love with Leila’s father Scott. 

Book launch

What made you decide to tell your story

The ABC’s Australian Story did a documentary about my life in 2014. After it aired, three different publishers approached me asking if I’d like to write a memoir and I thought it would be a lovely way to pay tribute to my deceased sons, Marlon and Louis and create a lasting record for my daughter Leila to read when she’s old enough given that she has quite a big back-story to her life and came into the world in quite an unconventional way.

Aminah and Marlon.

Did you have any goals for the book when you began writing it

I was very fortunate to be approached by publishers rather than the other way around. Initially I was offered a ghost writer but I am very protective of the story of my childrens lives and so I very much wanted to tell the story in my own voice and my own way although I’d never written for public consumption before. Ultimately I was offered an advance to write my story and the publisher I chose, Louise Thurtell at Allen and Unwin, was very supportive in her encouragement at the times when I worried I couldn’t do it. She assured me I’d find my voice and once I did the story would flow. This turned out to be true although it took a month of procrastination and avoidance before I got started in earnest.

Aminah and Louis.

How long did the book take to write

I signed the contract with Allen and Unwin in December of 2014 with a manuscript deadline of July 31st. I procrastinated for all of January 2015 then finally started writing on February 1st. I delivered the last section of the manuscript on July 30th, one day early!

Aminah and Leila.

Did you have a particular time of day you wrote, a number of words or chapters you wrote each day, a place you liked to write

Once I got going, I treated it like my full time job and wrote every day, sometimes for up to ten hours in a day. Sometimes the words wouldn’t come and I’d give myself a break then come back to it when I felt able.

Daddy and daughter.

How did you go about putting the book together

Thankfully I had kept fairly detailed diaries since I’d left home in Australia, for London in 1995. I also kept complete journals during both of my sons lives that chronicled every detail of our days as I never wanted to forget. I have a good memory but I would never have remembered the finer details without those records, especially the more traumatic times as they had been tucked firmly away in my emotional archive in order to cope and move forward. It was incredibly emotionally gruelling revisiting some of those tragic and painful times in my life.

Aminah, Scott and Leila.

The book is very honest and there are parts which must have been hard to write – how did you deal with writing the hard parts

It was a very steep learning curve. My mind works in a linear and methodical way having spent so many years in advertising agencies managing deadline driven projects, so I expected to start the book at the beginning and work my way through it chronologically. However the part before I was born relied on my mother’s diaries and I discovered they were written in shorthand which I can’t read so she had to transcribe those first meaning I couldn’t start where I had hoped. So I tried moving on the period of my life where I first got married and had my first son Marlon but the story wouldn’t come out. This was when I realised how I had wrapped up the saddest parts of my life tightly in little boxes and put them away in the recesses of my mind. At first I wasn’t ready to access those memories at all. Eventually I thought to myself, start with the happy part, the part where I had my healthy daughter Leila and then met her dad and fell in love. So I basically started at the end and wrote the whole thing back to front.

Once I’d had the reassurance from my publisher Louise that the quality of my writing was good, that gave me the confidence to delve into the sadder parts of my life story and put them on the page for public consumption. As you can imagine there were lots of tears and snot at times and I simply had to down tools, take myself for a long walk and let the memories filter back through my mind, as painful as that was. Hopefully it helped make the story authentic for readers as the emotions on the page are very real.

The media have focused on the back to front nature of your relationship with Scott and it is a lovely way to start, knowing the happy ending and working back, however, the book covers much more than that – how would you describe the book and what would you like readers to take from the book after they have read it

For me, it’s primarily a story of motherhood. Both my mother’s and my own. Our journeys to and of motherhood, the challenges, the potholes along the way but overwhelmingly of maternal love and lengths we will go to to protect and nurture our children who can bring the greatest of joy and deepest of sorrow to our lives. It is also the story of me. The racism I faced as a child and the strong and determined black woman I became despite it, nurtured by and within a loving family who gave me the tools I would need to face the unimaginable challenges ahead when it came to creating my own family.

Do you read yourself and if so, what do you like to read

Funnily enough I’ve always enjoyed tales of goodness and positivity coming out of difficult or challenging circumstances. The God of Small Things is an all time favourite. I also like reading stories that make me cry because invariably they make me think and look for the reasons for the tears which is where you so often find meaning. Tuesdays with Morrie is a good example.

What are you currently reading

I’m embarrassed to say I haven’t read a book since before I started writing my own. There was no spare time during the writing and there has been even less time since its release as I’ve been promoting it. The last book I read was Wild by Cheryl Strayed suggested to me by my publisher as a great example of how to write a memoir. I enjoyed it immensely and obviously it’s been a huge success.

What are the best things that have happened as a result of writing your book

The best thing that has happened has been the feedback from other people who have sent me messages from literally all over the world from India to Africa to the Americas and Asia, telling me how much my story has moved them, made them appreciate their lives and families all the more and given them hope, especially women who want to become mums but are still childless by chance and considering their options to create a family outside the box. I have replied to each and every message and each of them makes me believe that it was the right thing to do putting myself out there so personally by telling my life story.

The other thing has been getting the chance to read my story as a ‘reader’. Of course I still think of ways I could have bettered it but I sat on a plane to Japan and read my story for the first time. Whereas before it had just been the life I had lived, but in reading I understood why others see it as an exceptional life and exclaim my strength in not only surviving but being happy. These are the good things. The rest is just media!

Family of seven.

There has been a lot written about the ‘happy ending’ to your story – you are now married, mum to a happy and healthy daughter and part of a large family but how would you describe your life right now

I like to think of this phase of my life since meeting Scott as a happy new beginning rather than a happy ending as the media have positioned it. It’s the start of a family life I never thought I’d have. There was a time when I didn’t think marriage and family were possible for me and my wildest dreams never envisaged me as a stepmother to four other kids. Now we are a big family in a busy and chaotic household of seven plus the boys’ girlfriends and I couldn’t be happier. But, I am taking nothing for granted and still living in the moment as my sons taught me to and appreciating each and every happy day.

How I Met Your Father book cover.

Aminah’s memoir can be purchased at
Book Depository, iBooks or Amazon for the Kindle version.

Australian Story: view the documentary that started it all

Spaceathlon

This article first appeared in the Information Point newsletter in 2016 when Toni Abram who is diagnosed with dominant centronuclear myopathy wrote about taking part in a Spaceathlon Challenge to raise funds for the Neuromuscular Centre, where she attends for physiotheraphy treatment with her father Mike.

Toni and Mike

During May my dad and I took part in a Spaceathlon Challenge to raise funds for the Neuromuscular Centre (NMC) in Cheshire, where we both attend for physiotherapy treatment. The NMC is a national Centre of Excellence for adults with muscular dystrophy, providing ongoing, specialist physiotherapy, employment and training, advice and support to 1,000 individuals (and their friends, families, and carers) affected by neuromuscular conditions.

The centre is also a charity and 60% of the running costs of the centre come from fundraising but its services are free for its service users, many of whom travel from across the country and further afield to access the knowledge and expertise available.

Neuromuscular conditions affect over 70,000 individuals in the UK and range in severity, onset and presentation. Some conditions are diagnosed at birth, while others do not become apparent until later in life, as was the case with dad and me. However, all conditions present challenges and affect independence, mobility and quality of life and all share one unifying feature, muscle weakness, which is often progressive and can lead to changes in the ability to walk, climb stairs, washing and dressing. Individuals affected by neuromuscular conditions are often less mobile, less able to access active exercise and therefore more at risk of secondary health problems in the future.

You can learn more about the NMC and neuromuscular conditions in the short film below.

Toni and Mike

Dad and I began attending the NMC shortly after getting our diagnosis of centronuclear myopathy and are incredibly fortunate that it is almost on our doorstep. Finding the NMC was a godsend, for on getting our diagnosis, we were told there were very few others in the world with the illness, that there was no treatment and that no long term prognosis could be provided. In addition no counselling was given to help us come to terms with what our futures held and to enable us to deal with our diagnosis emotionally.

For a while previously, I had attended a physiotherapy clinic at my local hospital – the physio who was not trained to understand muscle diseases would spend considerable time twisting and moulding my body and placing my feet and arms in a particular way, only for me to immediately ‘flop’ the moment she left me to stand alone because my muscles are simply not strong enough and therefore totally resisted this regularly prescribed type of physio treatment. Attending for physio at the NMC however is a different matter entirely. My treatment is designed for me and rather than trying to make my body work normally or trying to cure me, the focus is on maintaining the movement and flexibility that I currently have for as long as possible. My physio’s understand muscle disease and always take the time to ask about recurring problems or whether there are any new issues since my last visit and are able to offer a number of ‘on site’ solutions for regular or one off aches and pains, such as an infra red heat lamp, ultrasound and ‘wellies’ which help with circulation problems.

Attending the centre has also connected my father and I to others with muscle diseases and although they have different conditions to us (there are 60 to 70 types of MD), they understand what we are going through, as we all experience similar physical problems. The NMC also provides other types of support, for instance they were able to advise me on an Access to Work scheme and provide me with a letter of support to give to my employer and I know that should I require any other assistance in the future, they would be there for me.

Without the NMC my father and I would still be living with the knowledge that we have a chronic health condition but feeling very isolated and not knowing where to turn for help and support and although we are both aware that our condition is progressing and that there is no cure for us, attending the NMC has enabled us to re-gain some control in the battle against our disease. We are grateful to have found a sort of home inside the walls of the NMC and taking part in the Spaceathlon, is an opportunity for dad and I to give something back by taking part in a fundraising activity for the centre. Also to raise awareness of the work of the centre and the benefits of exercise for people with muscle conditions, as well as improving our own fitness.

The challenge

Inspired by British Astronaut Tim Peake, the effects of zero gravity during space flights which cause astronauts to experience loss of muscle tissue and bone density and the Space to Earth Challenge set by Tim to get fit with him, the aim of the Spaceathlon is simple, to encourage the whole NMC community to contribute to a cumulative distance of 460km (the maximum distance between the earth and the ISS) by taking part in physical activities and to raise funds for the centre in the process. Based on a triathlon, participants could walk using a cross trainer, cycle using pedals or assisted arm pedals, swim in the hydro pool or row using the rowing machine.

Research indicates that exercise (at an appropriate intensity and frequency) is beneficial for individuals with muscle conditions, not only in providing a stimulus to maintain muscle strength but also improving whole body fitness and reducing soft tissue tightness and pain. So the NMC has asked their clients to think about their own levels of activity and to set themselves a challenge. This could take the form of a specific time or distance or simply doing a little more active exercise than usual (as is the case with dad and I), with some clients aiming to cover a half marathon distance on the centres bespoke, wheelchair accessible arm and leg pedals, swimming the length of the ISS in the hydrotherapy pool or rowing to the stratosphere. While some are incorporating three elements to their Spaceathlon challenge, linking it with the triathlon theme.

The science bit

So how does Tim Peake and the Space to Earth Challenge relate to neuromuscular conditions? The progressive nature of muscle conditions is similar to observations made of astronauts in space. After five months in orbit above the earth an astronaut would typically lose as much as 40% of muscle and 12% of bone mass. Therefore astronauts have to undergo daily rigorous exercise to try to help counteract the loss of bone and muscle fibre, together with other risks such as shrinking legs due to fluid redistribution, deterioration of weight baring bonus and muscles and forgetting how to walk, that come with living in microgravity. And just like like an astronaut, if people with neuromuscular conditions don’t exercise, their muscles will waste away faster still, so some physical activity, despite what people might think, is really important. It is not at all easy but helps with cardiorespiratory fitness, energy efficiency, weight management and muscle performance – exercising muscles maintains flexibility, length and strength and helps maintain better function for longer.

Similar to a thermostat that only maintains a temperature when it is needed, bodies only maintain or build muscle when muscles are used repeatly. This is why body builders are able to gain muscle bulk by repeated weight lifting and also the reason why astronauts need to do so much exercise when in space – where the lack of gravity reduces the stimulation the body would normally receive from physical activity, taking away muscle tissue and bone it believes to be unnecessary. This mechanism is reproduced in neuromuscular conditions, where reduced activity and reliance upon powered mobility aids such as wheelchairs, leads to a reduction in muscle mass.

And finally

35 participants took part in the Spaceathlon raising around £4,000. The Space Crew covered the 460km to the International Space Station and made it back to earth too, a total of 920km but the actual total reached was 1,000+ km and all this without adding on the distances covered by people who did their challenge outside of the centre (which included three triathlons, 1,000 lengths of swimming and walking.

Donate and get involved

If after reading this, you would like to make a donation or get involved with the work of the centre, you can do so below.

* Make a donation
* Get involved

Further information

* Exercising with a muscle condition
* What happens to muscles in space
* Space to Earth Challenge

  space-flyer-2

Spaceathlon flyer  space-flyer-3

The benefits of physiotherapy

This story first appeared in the Information Point newsletter Our World in 2012, when The Information Point spoke with Gill Storey, Head of Physiotherapy at the Neuromuscular Centre, a charity that supports people with muscular dystrophy, to learn more about the benefits of physiotherapy for people with muscular dystrophy.

Muscular Dystrophy (MD) is a range of hereditary progressive long term muscle wasting diseases that lead to loss of function and mobility. There are more than 60 different types of MD including centronuclear and myotubular myopathy, which present with varying patterns of disability.

Our muscles enable us to move, breathe, eat and circulate blood throughout the body. However, people with MD may find their ability to carry out these functions is compromised. 

Physiotherapy is a range of physical interventions and services aimed at restoring and improving the function and movement of people with MD to maximise their quality of life. 

Active exercise.

Tell us about the Neuromuscular Centre

The Neuromuscular Centre is a small charity established twenty one years ago to provide physiotherapy, education, care and support to adults with MD. We have a physiotherapy team of seven staff, six of whom are CSP registered and HPC registered and members of national and regional neuromuscular networks and a clinical specialist involved in research trials, national policy and care pathway development for MD.

Why do people with MD need physiotherapy

People with MD need specialist physiotherapy to maintain joint range, strength, mobility function and independence for as long as possible. Physiotherapy benefits those with MD because if muscles are not used they get weaker and smaller and are unable to carry out their normal function, for example if someone has weak thigh muscles (quadriceps) they will not be able to climb stairs.

Although people with MD cannot be cured, physio can be adapted to meet the changing needs of the patients and is crucial in delaying the need to go into a wheelchair, preventing falls and resulting injuries.

What does a physiotherapy programme for someone with MD involve

The range of treatments available are:

  • personalised exercise programmes to maximise muscle power and ability
  • muscle stretching techniques to maintain and improve joint range
  • hydrotherapy
  • assisted standing using tilt tables or standing frames to promote weight bearing, aid digestion, respiratory and cardiac function and bone density
  • acupuncture can be used to treat chronic pain commonly caused by poor posture and positioning in MD
  • chest physiotherapy to improve lung function, prevent chest infections and avoid hospital admission
  • access specialist exercise equipment that enables people with varying muscle power to perform to their maximum ability
  • use of massage, mobilisation techniques to treat injury and long term chronic pain
  • equipment advice and carer support

If muscle function has been lost can it be re-gained

Normally muscle power can be improved with exercise but with muscular dystrophy the muscle is inefficient and although normal power cannot be restored, it can be improved and maintained, although this varies from person to person depending on the type of MD.

Why is exercise appropriate

Exercise of an appropriate intensity and frequency tailored to the individuals needs and planned and monitored by an informed professional is beneficial to muscle strength, function and general fitness. However over exercise or inappropriate exercise can have a detrimental effect to muscles.

Does treatment need to fit an individual or does one size fit all

There are certain areas that you would expect to be affected with different conditions for example it would be expected that someone with FSHMD would have tight pectoral muscles, however, all exercise should be planned on an individual basis.

Does massage benefit patients with a neuromuscular condition

Massage techniques can be beneficial in providing relief from muscular pain or tight muscles in conjunction with a physiotherapy massage treatment and is proven to be very effective when used alongside heat therapy.

Why is specialist physiotherapy for people the MD so important

Local clinicians often feel patients can be seen by neurology or rehabilitation physiotherapy teams but these only provide short term intervention which is not always appropriate. MD is a relentless, hereditary, progressive disease that requires ongoing physiotherapy and care delivered by clinicians who specialise in this area. All types of MD present differently and mainstream local NHS services are unable to provide the regular, long term intervention that is required. Those who attend the NMC report that physiotherapy:

  • prevents GP appointments and minimises hospital admissions
  • prevents falls
  • provides timely intervention following injuries and RSI’s
  • enables them to maximise their mobility, independence, function and enables that to remain in employment for longer